JUNE AMPHITHEATRE OF CHOREMEIO

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1 JUNE AMPHITHEATRE OF CHOREMEIO RESEARCH LABORATORY AGHIA SOPHIA CHILDREN S HOSPITAL Swiss Society of Clinical Chemistry

2 INTERNATIONAL SCIENTIFIC ORGANIZING COMMITTEE Chair Dr. Ioannis Papassotiriou Head of the Department of Clinical Biochemistry, Aghia Sophia Children s Hospital, Athens, Greece Co-Chair Prof. Martin Hersberger Head of the Division of Clinical Chemistry and Biochemistry, University Children s Hospital Zurich, Zurich, Switzerland and President of the Swiss Society of Clinical Chemistry Prof. George P. Chrousos, Professor and Chairman First Department of Pediatrics and Head of the Division of Endocrinology, Metabolism and Diabetes, University of Athens Medical School, Athens, Greece Dr. Konstantinos Makris Secretary of the EuroMedLab Athens 2017 SPCommittee Laboratory for Research of Musculoskeletal System, University of Athens, KAT Hospital, Athens, Greece ORGANIZED BY IN COOPERATION WITH CO-ORGANIZED BY Swiss Society of Clinical Chemistry AUSPICES Task Force on Pediatric Laboratory Medicine

3 Dr. Ioannis Papassotiriou Prof. Martin Hersberger Dear Colleagues and Friends, On behalf of the Scientific Committee for the Satellite Symposium entitled Management of Inborn Errors of Metabolism: From Diagnosis to Treatment being organized in conjunction with the EUROMEDLAB-2017 Congress (www. athens2017.org), the biannual Congress of the European Federation of Laboratory Medicine, it is a great pleasure to welcome you in Athens from 10th to 11th June This Symposium is co-organized by the Greek Society of Clinical Chemistry and Clinical Biochemistry (EEKX-KB) and the Swiss Society for Clinical Chemistry (SSCC), and is under the auspices of the Task Force on Pediatric Laboratory Medicine of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM). The objective of the symposium is to define the current and future challenges in the field of inborn errors of metabolism and to improve networking between clinicians, laboratory scientists, researchers and IVD scientists. The location that will host the Congress is the Amphitheatre of Chroremeio Research Laboratory, First Department of Pediatrics Aghia Sophia Children s Hospital, which is close to the main EUROMEDLAB-2017 Congress venue Megaron. The city of Athens is one of the most important tourist destinations of the world, due to the immensity of its archaeological and artistic treasures that you will enjoy during the free evening. In addition, you will be able to enjoy the Greek gastronomic culture during the Satellite Symposium, which relies on traditional products that you will have the chance to taste. We hope that you will enjoy this Satellite Symposium Management of Inborn Errors of Metabolism: From Diagnosis to Treatment in Athens. You will be contacted later this year by the congress secretariat (MZ Congressi) for further arrangements. Dr. Ioannis Papassotiriou Prof. Martin Hersberger

4 Final Program Saturday June 10, 2017 MODERATORS: Prof. Martin Hersberger (CH) & Prof. George Chrousos (GR) Welcome and goals of the meeting Dr. Ioannis Papassotiriou (GR) Department of Clinical Biochemistry, Aghia Sophia Children s Hospital, Athens, Greece Prof. Martin Hersberger (CH) Division of Clinical Chemistry and Biochemistry, University Children s Hospital Zurich, Zurich, Switzerland Current status of newborn screening in Europe: 2016 Dr. J. Gerard Loeber (NL) President of the International Society for Neonatal Screening, National Institute for Public Health, Bilthoven, the Netherlands Selective screening strategies for inborn errors of metabolism Prof. Johannes Häberle (CH) Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland Genetic diagnosis of inborn errors of metabolism Dr. Periklis Makrythanasis (CH) Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland Dinner Sunday June 11, :00-11:00 Round Table MODERATORS: Prof. Ioannis Georgiou (GR) & Prof. Joanne Traeger-Synodinos (GR) Phenotype, diagnosis, genotype and treatment of urea cycle disorders Prof. Johannes Häberle (CH) Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland. Phenotype, diagnosis, genotype and treatment of amino acid disorders (PKU, MSUD) Dr. Thomas Opladen (DE) Division of Child Neurology and Metabolic Diseases, University Children s Hospital, Heidelberg, Germany Phenotype, diagnosis, genotype and treatment of mitochondrial energy disorders (fatty acid oxidation, ketones) Prof. Shamima Rahman (UK) Genetics & Epigenetics Department, UCL Institute of Child Health, and an Honorary Consultant in the Metabolic Medicine Department at Great Ormond Street Hospital, London, UK 11:00-11:15 Coffee break

5 11:15-13:15 Round Table MODERATORS: Prof. Christina Kanaka-Gantenbein (GR) & Dr. Katerina Psarra (GR) Phenotype, diagnosis, genotype and treatment of lysosomal storage disorders (Fabry, Pompe, Gaucher and Lysosomal Lipase Acid Deficiency) Dr. Helen Michelakakis (GR) Department Enzymology and Cellular Function, Institute of Child Health, Athens, Greece Phenotype, diagnosis, genotype and treatment of vitamin-responsive disorders (B6, B12, biotin) Prof. Barbara Plecko (CH) Division of Child Neurology, University Children s Hospital Zurich, Zurich, Switzerland Phenotype, diagnosis, genotype and treatment of dyslipidemias (Familial Hypercholesterolemia) Prof. Martin Hersberger (CH) Division of Clinical Chemistry and Biochemistry, University Children s Hospital Zurich, Zurich, Switzerland Transition from childhood to adulthood with inborn errors of metabolism Dr. Christel Tran (CH) Division of Endocrinology, Diabetology and Metabolism, University Hospital Lausanne, Lausanne, Switzerland 13:15-14:15 14:15-16:00 Lunch break Clinical cases: In memoriam: Dr. Athina Xaidara MODERATOR: Prof. Ching-Wan Lam (PRC) Dr. Lilia Lycopoulou (GR) First Department of Pediatrics, University of Athens Medical School, Athens, Greece Prof. J. Häberle (CH) Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland. Dr. Anastasia Skouma (GR) First Department of Pediatrics, University of Athens Medical School, Athens, Greece Dr. Christel Tran (CH) Division of Endocrinology, Diabetology and Metabolism, University Hospital Lausanne, Lausanne, Switzerland Prof. Barbara Plecko (CH) Division of Child Neurology, University Children s Hospital Zurich, Zurich, Switzerland Dr. Thomas Opladen (DE) Division of Child Neurology and Metabolic Diseases, University Children s Hospital, Heidelberg, Germany Prof. Shamima Rahman (UK) Genetics & Epigenetics Department, UCL Institute of Child Health, and an Honorary Consultant in the Metabolic Medicine Department at Great Ormond Street Hospital, London, UK *Presentation of posters of unpublished clinical cases is encouraged MODERATORS Prof. George P. Chrousos First Department of Pediatrics and Division of Endocrinology, Metabolism and Diabetes, University of Athens Medical School, Athens, Greece Prof. Ioannis Georgiou, Medical Genetics and Assisted Reproduction, University of Ioannina Medical School, Ioannina, Greece Prof. Christina Kanaka-Gantenbein, Pediatric Endocrinology and Diabetology, First Department of Pediatrics, University of Athens Medical School, Athens, Greece Prof. Ching-Wan Lam Department of Pathology, Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region of the People s Republic of China. Dr. Katerina Psarra, Department of Immunology-Histocompatibility, Evangelismos General Hospital, Athens, Greece. President of Greek Society of Clinical Chemistry-Clinical Biochemistry. Dr. Anastasia Skouma, Registrar Pediatrician, First Department of Pediatrics, University of Athens Medical School, Athens, Greece Prof. Joanne Traeger Synodinos, Department of Medical Genetics, University of Athens Medical School, Athens, Greece

6 GENERAL INFORMATION VENUE AND DATES The Inborn Errors of Metabolism Satellite Meeting, will take place in Athens, on June 10-11, 2017 at the Amphitheatre of Choremeio Research Laboratory Aghia Sophia Children s Hospital, Greece (Address: Thivon & Papadiamantopoulou Str., Athens, Greece , website: www. paidon-agiasofia.gr). LANGUAGE The official language of the meeting will be English. SHOPPING IN ATHENS In Athens the usual opening hours for shops are: - Monday, Wednesday & Saturday from Tuesday, Thursday & Friday from and from These times are not always strictly adhered to. Many shops in tourist resorts are open seven days a week. Department stores and supermarkets are open from (Monday-Friday) and from (Saturday) and are closed on Sunday. Post offices are open from (Monday-Friday) WEATHER Typically Mediterranean climate. Athens enjoys relatively mild winters and lovely temperate autumns and springs. The climate is pleasant and sunshine is plentiful. June is warm without being stifling, excellent for swimming and the temperature ranges from 25 C to 35 C. TRANSPORTATION Athens Airport The Athens International Airport is located in Spata, 27 km north-east of Athens and handles all international and domestic flights. For more information please visit the Eleftherios Venizelos website: A special feature of this web site is that on the home page you can link to live arrival and departure information by clicking on the link Real Time Flight Information. The Athens International Airport Εleftherios Venizelos is linked to the Athens city center by: From Airport by Bus ( Three express lines serve the Athens International Airport to Athens City Center on a 24 hours basis. The bus line E95 (Direction Syntagma) serves Athens City center (Syntagma, Constitution Square) The following timetable is applicable: From Airport to Syntagma area From Syntagma area to Airport Every 25 from to Every 25 from to Every from to Every from to Current ticket price for the airport express line is 6.

7 FROM AIRPORT BY TAXI An average journey by taxi from Eleftherios Venizelos Airport to City Centre should take approximately minutes, depending on the traffic. The cost of the ride should be around 38 per way. FROM AIRPORT BY METRO The metro (Lines 2 and 3) run from about am until 2.00 am, every 10 minutes, the trip takes approximately 30 minutes. For further information contact Attiko Metro or through the Internet Current ticket price for the metro is 10. WEB SITE Up-to-date information regarding the meeting will be available at the EUROMEDLAB web site: www. Athens2017.org Participants will be able to register and book hotel accommodation online. FULL REGISTRATION 200 STUDENTS REGISTRATION 60 EUROMEDLAB REGISTRANT FULL REGISTRATION 140 EUROMEDLAB REGISTRANT STUDENTS REGISTRATION 40 The registration fee includes: Access to the conference hall Coffee and lunch break Certification of Attendance MEETING SECRETARIAT & OFFICIAL TRAVEL AGENCY For any information regarding registration, accommodation, travel or sponsoring please contact the meeting secretariat & official travel agency: ERA LTD 17, Asklipiou Str., Athens-Greece Tel.: , Fax: info@era.gr, website: The registration secretariat and hospitality desk will operate at the Amphitheatre of Choremeio during meeting hours.

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